An Analysis of Polymorphisms Within the Wnt Signaling Pathway in Relation to Ovarian Cancer Risk in a Polish Population
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ORIGINAL RESEARCH ARTICLE
An Analysis of Polymorphisms Within the Wnt Signaling Pathway in Relation to Ovarian Cancer Risk in a Polish Population Adrianna Mostowska • Piotr Pawlik • Stefan Sajdak Janina Markowska • Monika Pawałowska • Margarita Lianeri • Paweł P. Jagodzinski
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Published online: 28 September 2013 Ó The Author(s) 2013. This article is published with open access at Springerlink.com
Abstract Background and Objective The Wnt/b-catenin signaling pathway has been considered to be a factor in the development and progression of ovarian cancer. Methods All patients with ovarian cancer and controls were tested for BRCA1 mutations (5382incC, C61G, 4153delA) with HybProbe assays and for BRCA2 mutation (5946delT) using high-resolution melting curve analysis (HRM). Mutation carriers were excluded from the association analysis. We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (b-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/ BRCA2 mutations (n = 228) and controls (n = 282). Genotyping of CTNNB1 rs4533622, rs2953, APC rs351771, AXIN2 rs4074947, rs3923087, and rs2240308 was performed by HRM, while that of APC rs11954856, rs459552 and AXIN2 rs7224837 was conducted by PCR
followed by the appropriate restriction enzyme digestion [PCR–restriction fragment length polymorphism (PCRRFLP)]. Results The most common BRCA1/BRCA2 mutations were identified in 30 patients with ovarian cancer. These mutations were not found in controls. The lowest p values of the trend test (ptrend) were observed for the APC rs351771 and rs11954856 SNPs in patients with ovarian cancer (ptrend = 0.006 and ptrend = 0.007, respectively). Using a dominant inheritance model, we found that the APC rs11954856 SNP is associated with an increased risk of ovarian cancer development [odds ratio = 2.034 (95 % CI 1.302–3.178); p = 0.002]. We also observed significant allelic differences for the APC rs351771 SNP between patients and controls (p = 0.006). Conclusion Our study demonstrated significantly increased APC rs11954856 and rs351771 SNP frequencies in Polish women with ovarian cancer.
1 Introduction Electronic supplementary material The online version of this article (doi:10.1007/s40291-013-0059-y) contains supplementary material, which is available to authorized users. A. Mostowska M. Lianeri P. P. Jagodzinski (&) Department of Biochemistry and Molecular Biology, Poznan´ University of Medical Sciences, 6 S´wie˛cickiego St., 60-781 Poznan, Poland e-mail: [email protected] P. Pawlik S. Sajdak Clinic of Gynecological Surgery, Poznan´ University of Medical Sciences, Poznan, Poland J. Markowska M. Pawałowska Chair of Gynecologic Oncology, Poznan´ University of Medical Sciences, Poznan, Poland
Ovarian cancer has the highest mortality among gynecological malignancies in Europe and the USA [1, 2]. Several factors, including genetic background, are known to increase the risk of ovarian cancer development
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